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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 2
1987 2
1993 1
1995 2
1996 2
1997 4
1999 2
2000 3
2001 3
2002 3
2004 1
2005 4
2006 1
2007 1
2008 3
2009 2
2010 2
2011 1
2012 4
2013 8
2014 5
2015 3
2016 4
2017 3
2018 3
2019 2
2020 1
2022 2
2023 2
2024 1

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69 results

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Page 1
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.
Yogev Y, Shorer Z, Koifman A, Wormser O, Drabkin M, Halperin D, Dolgin V, Proskorovski-Ohayon R, Hadar N, Davidov G, Nudelman H, Zarivach R, Shelef I, Perez Y, Birk OS. Yogev Y, et al. Among authors: shorer z. Proc Natl Acad Sci U S A. 2023 Feb 14;120(7):e2217831120. doi: 10.1073/pnas.2217831120. Epub 2023 Feb 6. Proc Natl Acad Sci U S A. 2023. PMID: 36745799 Free PMC article.
PSMC1 variant causes a novel neurological syndrome.
Aharoni S, Proskorovski-Ohayon R, Krishnan RK, Yogev Y, Wormser O, Hadar N, Bakhrat A, Alshafee I, Gombosh M, Agam N, Gradstein L, Shorer Z, Zarivach R, Eskin-Schwartz M, Abdu U, Birk OS. Aharoni S, et al. Among authors: shorer z. Clin Genet. 2022 Oct;102(4):324-332. doi: 10.1111/cge.14195. Epub 2022 Aug 3. Clin Genet. 2022. PMID: 35861243 Free PMC article.
ZNF142 mutation causes sex-dependent neurologic disorder.
Proskorovski-Ohayon R, Eskin-Schwartz M, Shorer Z, Kadir R, Halperin D, Drabkin M, Yogev Y, Aharoni S, Hadar N, Cohen H, Eremenko E, Perez Y, Birk OS. Proskorovski-Ohayon R, et al. Among authors: shorer z. J Med Genet. 2024 May 21;61(6):566-577. doi: 10.1136/jmg-2023-109447. J Med Genet. 2024. PMID: 38296634
PRRT2 mutations: exploring the phenotypical boundaries.
Djémié T, Weckhuysen S, Holmgren P, Hardies K, Van Dyck T, Hendrickx R, Schoonjans AS, Van Paesschen W, Jansen AC, De Meirleir L, Selim LA, Girgis MY, Buyse G, Lagae L, Smets K, Smouts I, Claeys KG, Van den Bergh V, Grisar T, Blatt I, Shorer Z, Roelens F, Afawi Z, Helbig I, Ceulemans B, De Jonghe P, Suls A. Djémié T, et al. Among authors: shorer z. J Neurol Neurosurg Psychiatry. 2014 Apr;85(4):462-5. doi: 10.1136/jnnp-2013-305122. Epub 2013 Oct 7. J Neurol Neurosurg Psychiatry. 2014. PMID: 24101679
Pediatric epilepsy and parental sleep quality.
Shaki D, Goldbart A, Daniel S, Fraser D, Shorer Z. Shaki D, et al. Among authors: shorer z. J Clin Sleep Med. 2011 Oct 15;7(5):502-6. doi: 10.5664/JCSM.1318. J Clin Sleep Med. 2011. PMID: 22003346 Free PMC article.
Immunoglobulin treatment for severe childhood epilepsy.
Geva-Dayan K, Shorer Z, Menascu S, Linder I, Goldberg-Stern H, Heyman E, Lerman-Sagie T, Ben Zeev B, Kramer U. Geva-Dayan K, et al. Among authors: shorer z. Pediatr Neurol. 2012 Jun;46(6):375-81. doi: 10.1016/j.pediatrneurol.2012.03.015. Pediatr Neurol. 2012. PMID: 22633633
PLA2G6 mutation underlies infantile neuroaxonal dystrophy.
Khateeb S, Flusser H, Ofir R, Shelef I, Narkis G, Vardi G, Shorer Z, Levy R, Galil A, Elbedour K, Birk OS. Khateeb S, et al. Among authors: shorer z. Am J Hum Genet. 2006 Nov;79(5):942-8. doi: 10.1086/508572. Epub 2006 Sep 19. Am J Hum Genet. 2006. PMID: 17033970 Free PMC article.
SEC31A mutation affects ER homeostasis, causing a neurological syndrome.
Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R, Abdu U, Flusser H, Birk OS. Halperin D, et al. Among authors: shorer z. J Med Genet. 2019 Mar;56(3):139-148. doi: 10.1136/jmedgenet-2018-105503. Epub 2018 Nov 21. J Med Genet. 2019. PMID: 30464055
69 results